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H M M T B Herath, S P Pahalagamage, Sunethra Senanayake
BACKGROUND: The pathogenesis of osmotic demyelination syndrome is not completely understood and usually occurs with severe and prolonged hyponatremia, particularly with rapid correction. It can occur even in normonatremic patients, especially who have risk factors like alcoholism, malnutrition and liver disease. Bilateral tongue fasciculations with denervation pattern in electromyogram is a manifestation of damage to the hypoglossal nucleus or hypoglossal nerves. Tongue fasciculations were reported rarely in some cases of osmotic demyelination syndrome, but the exact mechanism is not explained...
March 14, 2018: BMC Research Notes
Satish V Khadilkar, Akash H Chheda
OBJECTIVES: Systematic and quantitative evaluation of the plantar reflex has been infrequently studied in the past and can help assess the vexing variables encountered in its elicitation. The objective of this study was to determine the effect of type, pattern and force of stimulation in eliciting an accurate plantar response in patients with pyramidal dysfunction and healthy individuals. PATIENTS AND METHODS: A special instrument was designed to give a predesigned force of stimulus...
March 5, 2018: Clinical Neurology and Neurosurgery
J Zhang, M Liu, L Zhou, Z B Zhang, J M Wang, Y W Jiang, Y Wu
Objective: To analyze the clinical and imaging features of hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL) due to mutations in DARS, and to identify DARS mutations responsible for HBSL. Methods: Data on 2 HBSL patients who were admitted to the pediatric department of Peking University First Hospital from January 2009 through December 2016 were reviewed and the 2 patients were followed up. Targeted next generation sequencing, whole exome sequencing and Sanger sequencing were employed to identify potential genetic variations of the children and their parents...
March 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Chaoyang Jing, Zhuo Wang, Chaojia Chu, Ming Dong, Weihong Lin
RATIONALE: Bickerstaff brainstem encephalitis (BBE) and Miller-Fisher syndrome (MFS) might be a pedigree disease. Herein, we report a rare case that fits the diagnoses of both MFS and BBE. PATIENT CONCERNS: A 48-year-old woman was hospitalized due to blurred vision and unsteady gait lasting for 9 days, and numbness of the limbs lasting for 6 days. Physical examination showed restricted eye movement without nystagmus, bilateral flattening of forehead and nasolabial folds, and positive eyelash sign...
March 2018: Medicine (Baltimore)
Janice C Wong, Kailey Walsh, Douglas Hayden, Florian S Eichler
OBJECTIVES: Cerebrotendinous xanthomatosis (CTX) is a rare inherited neurodegenerative disorder in bile acid synthesis. The natural history of neurological abnormalities in CTX is not well understood. The object of this study was to determine neurological progression in CTX. METHODS: A literature search on PubMed for "cerebrotendinous xanthomatosis" yielded 91 publications that reported cases of CTX patients. Two independent reviewers abstracted information about the presence and age of onset of neurological abnormalities in published CTX cases...
February 26, 2018: Journal of Inherited Metabolic Disease
Yu-Ju Chen, Chao-Liang Chou, Kuan-Ju Lai, Ya-Ju Lin Lin
PURPOSE: Invasive mycosis caused by the Aspergillus, Fusarium, and Mucor can be fetal, especially in the immunocompromised patients with central nervous system (CNS) involvement. Here we present a case of CNS Fusarium infection, and this is the first reported case of Fusarium brain abscess in Taiwan. CASE REPORT: A 65-year-old woman presented with fever and conscious disturbance for 3 days. Neurological examination showed stupor consciousness, neck stiffness, multiple cranial nerves palsy, and bilateral Babinski signs...
September 15, 2017: Acta Neurologica Taiwanica
Caroline M Gorvin, Valerie N Babinsky, Tomas Malinauskas, Peter H Nissen, Anders J Schou, Aylin C Hanyaloglu, Christian Siebold, E Yvonne Jones, Fadil M Hannan, Rajesh V Thakker
The calcium-sensing receptor (CaSR) is a G protein-coupled receptor (GPCR) that signals through Gq/11 and Gi/o to stimulate cytosolic calcium (Ca2+ i ) and mitogen-activated protein kinase (MAPK) signaling to control extracellular calcium homeostasis. Studies of loss- and gain-of-function CASR mutations, which cause familial hypocalciuric hypercalcemia type 1 (FHH1) and autosomal dominant hypocalcemia type 1 (ADH1), respectively, have revealed that the CaSR signals in a biased manner. Thus, some mutations associated with FHH1 lead to signaling predominantly through the MAPK pathway, whereas mutations associated with ADH1 preferentially enhance Ca2+ i responses...
February 20, 2018: Science Signaling
Saraswati Nashi, Veeramani Preethish-Kumar, Sayani Maji, Nagarathna Chandrashekar, Kiran Polavarapu, Chetan Kashinkunti, Kajari Bhattacharya, Jitender Saini, Atchayaram Nalini
Diffuse spinal arachnoiditis in neurobrucellosis is a rare manifestation. We report a boy aged 17, presenting with hearing impairment and recurrent vomiting for 18 months, weight loss for 12 months, dysphagia, dysarthria, hypophonia for 6 months, and gait unsteadiness for 5 months. He had bilateral 5th (motor) to 12th cranial nerve palsy, wasting and weakness of limbs, fasciculations, absent tendon reflexes, and positive Babinski's sign. Cerebrospinal fluid (CSF) showed raised protein and pleocytosis. Magnetic resonance imaging (MRI) showed extensive enhancing exudates in cisterns and post-contrast enhancement of bilateral 5th, 6th, 7th, and 8th nerves...
January 15, 2018: American Journal of Tropical Medicine and Hygiene
Aaron R Kuzel, Muhammad Uzair Lodhi, Intekhab Askari Syed, Mustafa Rahim
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized clinically by progressive muscle weakness that can occur proximally or distally in either the upper or lower extremities. It includes both upper motor neuron signs (spasticity, hyperreflexia, clonus, and Babinski sign) and lower motor neuron signs (atrophy, weakness, and muscle fasciculation). Initial presentation of progressively painful muscle cramps should lead the physician to screen for other signs of amyotrophic lateral sclerosis...
November 10, 2017: Curēus
Dengyong Liao, Jing Zhang, Haifeng Chen
A 23-year-old female was admitted to our hospital because she had suffered from back pain for 3 years and paralysis of both lower limbs for 10 days. Neurologic examination showed sensory disturbance and complete paralysis in bilateral lower extremities with negative Babinski sign. Contrast-enhanced MRI showed there was an enhanced intradural lesion between T2 to T12, which pressed the spinal cord. The lesion was resected completely by laminectomy approach, and the tumor was totally intradural extramedullary...
December 20, 2017: World Neurosurgery
Yasushi Iwasaki, Ken-Ichiro Hoshino, Keiko Mori, Masumi Ito, Yoshinari Kawai, Maya Mimuro, Tamao Tsukie, Takeshi Ikeuchi, Mari Yoshida
Since she was 4 years old, the patient had exhibited frequent convulsive seizures, and she experienced severe headaches and depression in adulthood. At the age of 37 years, cerebral calcifications were detected, but she exhibited no cognitive or motor problems. She suffered a cerebral haemorrhage at 49 years old and experienced cognitive dysfunction, dysarthria, dysphagia, and left-hemiparesis as sequelae. After undergoing gastrostomy, she exhibited very slow cognitive deterioration associated with speech disturbance over more than 10 years...
September 2017: ENeurologicalSci
Kunihiro Yoshida, Satoshi Kuwabara, Katsuya Nakamura, Ryuta Abe, Akira Matsushima, Minako Beppu, Yoshitaka Yamanaka, Yuji Takahashi, Hidenao Sasaki, Hidehiro Mizusawa
Cortical cerebellar atrophy (CCA) and multiple system atrophy with predominant cerebellar ataxia (MSA-C) are the two major forms of adult-onset sporadic ataxia. Contrary to MSA-C, there are neither diagnostic criteria nor neuroimaging features pathognomonic for CCA. Therefore, it is assumed that the category of CCA in the Japanese national registry include heterogeneous cerebellar ataxic disorders. To refine this category in more detail, we here used a clinical-based term, "idiopathic cerebellar ataxia (IDCA)", and proposed its diagnostic criteria...
January 15, 2018: Journal of the Neurological Sciences
Michiaki Matsuda, Shinpei Takesako, Mitsuhiro Nakazaki, Toru Nandate, Fujio Umehara
We describe the case of a 90-year-old woman who was hospitalized in July 2016 and subsequently experienced a sudden decline in consciousness level resulting in a state of deep coma. Involuntary movements were not observed, and bilateral Babinski signs were inconclusive. Diffusion-weighted MRI (DWI) of the brain showed bilateral hyperintensity in the thalamus and internal capsule, laboratory testing detected high levels of plasma ammonia, and an electroencephalogram showed delta waves and triphasic waves predominantly in the frontal lobe...
December 27, 2017: Rinshō Shinkeigaku, Clinical Neurology
Lei Wei, Li Ding, Haiyan Li, Yinyao Lin, Yongqiang Dai, Xiaofeng Xu, Qing Dong, Yanjun Lin, Ling Long
BACKGROUND: Juvenile-onset parkinsonism is often caused by genetic factors. Mutations in several autosomal genes, including the F-box only protein 7 (FBXO7) gene, have been found in patients suffering from juvenile-onset parkinsonism with pyramidal signs. Only five types of FBXO7 mutations have been described. Here, we present a case report about a Chinese patient presenting with juvenile-onset parkinsonism likely caused by FBXO7 mutations. METHODS: The patient was a 32-year-old Chinese male...
February 2018: Parkinsonism & related Disorders
H F Wang, F Yang, F Cui, Z H Chen, L Ling, X S Huang
Ten patients diagnosed with multifocal motor neuropathy (MMN) were recruited in the Department of Neurology at Chinese PLA General Hospital from January 1, 2009 to August 31, 2015. The clinical and electrophysiological features were analyzed retrospectively. All patients complained of progressive asymmetric limb weakness, which was more severe in distal than in proximal. Five presented muscle atrophy. None had sensory disturbances. All suffered diminished or disappeared tendon reflex, whereas Babinski signs were negative...
November 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
R C Araújo, L A S Pires, M L Andrade, M C Perez, C S L Filho, M A Babinski
The cephalic vein arises from the radial end of the dorsal venous arch. It turns around the radial border of the forearm and passes proximally along the arm to the shoulder, where it enters the axillary vein by penetrating the clavipectoral triangle. The cephalic vein is prone to vary at the antecubital fossa, where it forms numerous anastomoses. A male cadaver fixated with a 10% formalin solution was dissected during regular anatomy lessons. It was found that the cephalic vein crossed the upper third of the arm between two fasciculi of the deltoid muscle and reached the shoulder, where it passed above the acromion and crossed the posterior border of the clavicle in order to join the external jugular vein...
November 10, 2017: Morphologie: Bulletin de L'Association des Anatomistes
Giuseppe Leone, Sergio Nappini, Andrea Wlderk, Antonio Laiso, Maria Lamassa, Patrizia Nencini, Salvatore Mangiafico, Nicola Limbucci
Anton-Babinski syndrome is a rare neuropsychiatric syndrome characterized by bilateral cortical blindness and anosognosia with visual confabulation. We present the case of a patient presenting with occlusion of both posterior cerebral arteries (PCA), with Anton-Babinski syndrome, completely solved after combined systemic thrombolysis and mechanical thrombectomy with a stent-retriever.
November 6, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Javier Quillo-Olvera, Guang-Xun Lin, Jin-Sung Kim
A 73-year-old man with progressive quadriparesis, six months of evolution. Physical examination showed decreased strength at upper and lower limbs together with an increase in osteotendinous reflexes with Babinski sign. Upon radiological investigation, MRI revealed a tumor at C3-T2 with a severe ventrolateral displacement of the spinal cord (Figure 1). The patient underwent surgery for gross total resection of the lesion. Histopathologic findings reported a schwannoma. (Figure 2). Muscular strength of the limbs improved three months after surgery, and the patient was able to walk without assistance...
October 28, 2017: World Neurosurgery
Menachem Sadeh, Ron Dabby
Hand weakness and wasting in the setting of mid-cervical spondylosis and disc herniation without radiological evidence for compression of the C8 or T1 roots has been rarely reported. We retrospectively studied the data of patients with hand weakness and mid-cervical spondylosis. The clinical and radiological findings were compared to a control group of patients with weakness of the arm or forearm muscles and similar mid-cervical spondylosis. We found 19 patients with weakness and atrophy of the intrinsic hand muscles, and 13 patients with weakness proximal to the hand muscles to serve as a control group...
October 30, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Lucas Pires, Jan-Peter Perissé, Gabriel Costa Serrão Araújo, Jorge Manaia, Albino Fonseca Júnior, Marcio Antonio Babinski
Variations of the forearm musculature are vastly described in the literature. The palmaris longus muscle is one of the most variable structures of the human body. It usually rises from the medial epicondyle of the humerus and inserts itself into the palmar aponeurosis. Anatomy textbooks and recent papers state that this muscle may act as a weak wrist flexor. The present work aims to report an anatomical variation where the palmaris longus muscle was abnormally hypertrophied and was completely fleshy throughout the whole forearm...
October 24, 2017: Folia Morphologica (Warsz)
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